Tag Archives: Prenatal

by | February 11, 2014 · 1:30 PM

Guest Post: NIPS: A Call to Embrace and Educate!

By Lisa Demers

Lisa Demers is a certified genetic counselor working in a prenatal diagnosis program at Dartmouth-Hitchcock in Nashua, NH.  She graduated from the Arcadia Genetic Counseling Program in 2003.  Lisa has been president of the New England Regional Genetics Group, is a member of the New Hampshire Perinatal Loss Taskforce, and is the proud mother of two little boys who teach her more and more about Star Wars every day. 

I feel like it’s time to show some appreciation for the amazing screening test that has truly enhanced the prenatal screening world.  Non-invasive prenatal screening (NIPS) has taken our prenatal world by storm and is rapidly infiltrating university hospitals and private practices alike.  This is a change (who really likes change?) and it’s fast.   Testing has jumped out of the controlled hands of research laboratory scientists and into the lucrative playing field of investor-backed industry.  But is this a bad thing?

NIPS has taken traditional screening and made it better.  There is no denying that NIPS is a superior screening test.  The benefit of NIPS over traditional screening is acknowledged by the rapid approval of coverage by major insurance plans. I applaud Katie Stoll in her eloquent summary of the discrepant positive predictive value (PPV), but I do not think this area of ambiguity should overshadow the benefits of testing.  The PPV for a “high risk” (or whatever language the report contains) sample, even if it is 11% (using the data in Katie’s initial post), is about the same as a 1 in 9 risk for trisomy 18 using traditional methods.   So is the counseling really very different?   “This screening test suggests a very high risk for trisomy 18, diagnostic testing will tell us for sure”.

Our knowledge about how to best utilize this test and interpret the results is an ongoing process.  This is completely on par with other technologies. At one point, supernumary rings were identified on karyotype with little way to identify the origin.  The argument that we shouldn’t use a technology until we completely understand it is unreasonable.  We need large testing numbers to give us these uncertain results so that we can learn from them.  Ambiguity with test results is hardly a new concept for us.  Genetic counselors deal with this all the time!  Our counseling isn’t really changing; it’s just the same uncertainty coming from a different test.

I argue that this test provides much LESS ambiguity since most women are getting reassuring results.  The number of women who are screen positive is dramatically decreased.   Fewer women being anxious, fewer amnios being considered and performed, and fewer losses of otherwise normal babies.    And why wouldn’t an informed patient want the BEST screening test?   And why wouldn’t providers want to offer it?

I absolutely acknowledge that not all patients are fully informed about NIPS prior to testing, and I hate to think about the ignorance that providers may pass along to patients.  But what genetic counselor hasn’t had a patient arrive at their office with an abnormal screening result thinking that their baby is, in fact, affected?  We hear this endlessly.  And how long has traditional screening been around?  And those results even have a risk estimate listed!  Sometimes I like being the hero in these situations “You mean my pregnancy is at a one percent risk for Down syndrome?  What a relief!”  The misinterpretation of testing results is inevitable.  We should not back away from better testing simply because some people do not understand.

While I agree that I would prefer that the commercial labs present their results with some more obvious notation of the limitations of the testing, no report can eliminate ignorance.  So perhaps our focus can be a shift to better education.  After all, isn’t that we do?  We need to talk with providers in our area and help them understand the test more clearly.  Review with the nursing staff when a referral is sent to us that the results are screening and not diagnostic.  I can tell you that in my own experience, education isn’t always successful because I still have providers who offer universal SMA and Fragile X testing without being able to interpret the results. *Sigh*  But these patients are ultimately referred for counseling, and I consider that a success.

Education at the patient level is important too.  Group counseling sessions can be an effective way to inform the pregnant population, especially about universal topics like screening.  The overwhelming task of education is not unique to prenatal genetic counselors, but to the profession as a whole.  Rather than hold back on a test that is truly superior because providers misunderstand it, why don’t we try to tackle the larger issue of provider education?

What I hope is that the consumers of NIPS can work closely with the industry providers to further study the performance of this technology to better understand cell free fetal DNA and its utility in pregnancy screening.  Let’s work together in educating providers about the testing and the importance of pre-test counseling.  Patients deserve it.  Without the cooperation and participation from genetic counselors we risk delaying universal acceptance of NIPS.  Let’s all jump aboard and steer this train.

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by | January 22, 2010 · 10:13 AM

A less common motivation for prenatal diagnosis

As I explore a woman’s capabilities and values in decision making regarding pregnancy and testing, I sometimes uncover unexpected underlying motivations for the genetics consultation. One area that intrigues me and is not often discussed (if at all) in the literature is the desire for what is typically deemed a “poor” outcome.

I believe it is integral for the prenatal genetic counselor to understand the circumstances surrounding a conception – was this a desired pregnancy? Did it take a long time to conceive? Is the patient ambivalent about the pregnancy? There are times when I have I realized a pregnancy was unplanned and the patient did not wish to continue the pregnancy, but did not feel comfortable with abortion or an adoption plan.

To such individuals, prenatal diagnostic procedures can be the beacon of hope, the ticket to diffusion of responsibility. If a miscarriage occurs as a result of the procedure, the patient can take comfort in the justification that she was testing to ensure the health of her pregnancy and that the miscarriage was beyond her control. If a diagnosis of a chromosomal issue is made, the patient can feel further justified in pursuing an abortion feeling she does not want to bring a child into the world who may experience undue suffering.

If a patient desires a procedure because she has a hope it will increase her odds for miscarriage or the diagnosis of an anomaly and thus, facilitate a more passive act than actively terminating a healthy pregnancy, do you feel the procedure becomes unjustified? In medical world where (gratefully) diagnostic procedures are offered to everyone and termination is available for any reason, I believe the answer is no. But it is a key moment in counseling to explore the meaning/implications of the pregnancy for the patient and the ramifications of both a healthy or atypical outcome after diagnostic testing.

The genetic counseling relationship must extend further in this case when a diagnosis of a healthy fetus with 46 chromosomes is made just as it would when a diagnosis of Trisomy 18 discovered. The genetic counselor must continue to engage in the decision making process regarding the pregnancy, and if she uncovers psychological defenses and processes that are too complex for the GC to work through, she must refer to a social worker/appropriate counselor. Remember, the quality of a decision is often a function of the decision process itself more than outcome. I think if a patient can look back on a decision and feel she spent a great deal of time considering her values, beliefs, and desires, she can feel more comfortable with her choice whether it be to continue, terminate, or make an adoption plan. We can not simply inform the patient the results are “normal” and move on.

We often think about prenatal diagnosis in terms of the quest for the perfect child, the reassurance of a healthy child, the ability to prepare for a child with special needs, and the availability of making decisions in favor of termination the face of a difficult diagnosis. Often prenatal diagnosis is tied to a desired pregnancy where there is parental desire to feel some degree of control over their and their child’s future. But what I am thinking about is in opposition to this, an undesired pregnancy where there is parental desire to have little control over the outcome, to be in a situation where the individual does not wish to bear the burden/responsibility of making a decision against continuing a pregnancy. We must also remember that this all may backfire on the patient if a miscarriage really does occur or if a prenatal diagnosis is actually made. The patient may then begin to feel a great deal of responsibility, remorse, guilt, and shame that was unexpected. You have to be prepared for this as well.

We all make decisions hundreds of times a day that we are not conscious of, not challenged by. Sometimes decisions about prenatal diagnosis appear to clear cut and our patients may even describe them in this way. But we must be astute enough to recognize when this is not the case and engage the patient enough to openly talk about her thoughts and help her anticipate the myriad of potential genetic and emotional outcomes. And we must be prepared to effectively make appropriate referrals when the patient’s psychological dynamics are too complex for our training to unravel and assist.

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by | May 25, 2009 · 8:15 PM

Our Uneasy Relationship with Prenatal Diagnosis

Genetic counseling and prenatal diagnosis are interwoven in a double helix. It is no coincidence that the genetic counseling profession emerged on the heels of the first “genetic” amniocenteses in the late 1960s. Amnio’s and maternal serum screening (MSS) for Down syndrome were the driving forces behind the expansion of the GC job market, fueled by the sudden blossoming of “advanced maternal age” pregnancies that began in the mid to late 1970s and has continued unabated for 30 years. Not only did prenatal testing open up job opportunities, the attendant laboratory, professional, procedural, and overhead fees opened up significant sources of income to medical centers and physicians and provided funds to cover GCs’ salaries.

Prenatal diagnosis also offered GCs the opportunity to develop a unique clinical expertise in risk assessment, interpretation of amnios and MSS results, and patient communication that established clinical value of GCs for patients and referring physicians.

But for all the economic and professional benefits it provided GCs, prenatal diagnosis has its dark side. A number of critics have rightly pointed out that the unwritten message of prenatal diagnosis – as it is perceived across a fairly broad social spectrum –to people with disabilities is “Sorry, you’re not welcome here.”do not enter

Yes, I know the counter-arguments. Nobody is forced to have an amnio or an abortion.  Parents have their reproductive rights that we unflinchingly support. We all work hard at not trying to consciously influence the routes our patients choose as they travel down the Decision Making Highway. Many of us proudly point to our many patients who have elected to continue such pregnancies.  We also fight the good fight for people and families living with disabilities, helping them in their struggles with insurance companies, educational systems, and a complicated and sometimes uninformed medical system.highway stop

Hooray for us. That is what we are supposed to do.

But our protests that we are supporting women’s hard earned reproductive rights rather than implementing an evil eugenic agenda does not change the way the message is perceived. The availability of widespread prenatal diagnosis is based on the assumption that most parents will selectively terminate fetuses with disabilities, an assumption supported by most published studies. As I have pointed out in other venues, the decision to use age 35 or older as the indication for amniocentesis was not based on some mythical figure about the risk of amniocentesis. Rather, age 35 was chosen primarily on economic grounds, i.e., by that age, the societal cost of amniocentesis was less than the cost of caring for people with Down syndrome. Let’s face it – many parents will choose to avoid having a child with disabilities if they can do so, and that is what drives prenatal screening.

In the eyes of our critics, GCs play a critical role in the delivery of prenatal diagnosis services, and therefore support the implicit negative message.  We are guilty by association if not necessarily by intent.

I do not know of an effective counter argument. Either we choose to acknowledge that this is indeed a valid criticism, the world is sometimes a harsh place, and that is a hard truth of living in a world where women struggle to achieve a full range of reproductive choices. Or we pull out of prenatal diagnosis altogether.  I do not think the latter choice is likely to happen.

What are your thoughts? I look forward to reading your comments and insights. But keep in mind the words of Samuel Beckett’s character Estragon, in Waiting for Godot: “Let us try and converse calmly since we are incapable of keeping silent.”

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